Canonical Allele Identifier: CA400217714

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1803195
• ClinVar RCV Id: RCV002466865
• gnomAD v4: 17-50194755-C-A
• MyVariant Identifiers: chr17:g.48272116C>A (hg19) ; chr17:g.50194755C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194755C>A , CM000679.2:g.50194755C>A	GRCh38
NC_000017.10:g.48272116C>A , CM000679.1:g.48272116C>A	GRCh37
NC_000017.9:g.45627115C>A	NCBI36
NG_007400.1:g.11885G>T , LRG_1:g.11885G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1427G>T MANE Select	ENSP00000225964.6:p.Gly476Val
ENST00000225964.9:c.1427G>T	ENSP00000225964.5:p.Gly476Val
ENST00000471344.1:n.371G>T
NM_000088.3:c.1427G>T , LRG_1t1:c.1427G>T	NP_000079.2:p.Gly476Val
XM_005257058.3:c.1427G>T	XP_005257115.2:p.Gly476Val
XM_005257059.3:c.957+1559G>T	XP_005257116.2:n.957+1559G>T
XM_011524341.1:c.1229G>T	XP_011522643.1:p.Gly410Val
XM_005257058.4:c.1427G>T	XP_005257115.2:p.Gly476Val
XM_005257059.4:c.957+1559G>T	XP_005257116.2:n.957+1559G>T
NM_000088.4:c.1427G>T MANE Select	NP_000079.2:p.Gly476Val